Life with Vivienne: Clinical trial brings new hope for girl with spinal muscular atrophy

Ed note: A year since this story was published, Vivienne remains stable. Her test drug, to be marketed as SPINRAZA (TM), met its clinical trial endpoints and is now under review by the Food and Drug Administration. It could be available in early 2017 for SMA Type 1 and possibly for other forms of SMA.

When Helena Liedtke was pregnant with her first child, she and her husband Helge could agree on one name only—Vivienne, which means to live.

They happily named their newborn daughter Vivienne and rejoiced in her good health.

But as Vivienne grew from infant to toddler, she was slow to reach motor milestones like crawling, cruising and walking.

“We started feeling suspicious around the time Vivienne turned 1 and wondered if she was losing strength,” recalls Helena.

Helena mentioned her concerns to Vivienne’s pediatrician at her 15-month checkup, but the doctor assured her Vivienne would be walking by the time she turned 18 months.

During the next few weeks, Helena and Helge observed their daughter and watched family videos they had taken in the past few months. “We could see Vivienne had lost strength and skills,” says Helena.

She called the pediatrician and insisted on an assessment.

After the early intervention team evaluated Vivienne, they suspected she had a neurological condition, and she was referred to the neurology clinic at Boston Children’s Hospital. Helena and Helge brought Vivienne to Boston in February 2011.

A diagnosis of SMA…and hope

“When the doctor called back and said ‘we need to see you,’ we knew,” says Helena, who was eight months pregnant with the couple’s second child at the time.

Vivienne was diagnosed with Type 2 spinal muscular atrophy (SMA), a rare genetic condition affecting one in every 6,000 to 10,000 children. Children with SMA have a defect in the SMN1 gene—their bodies lose nerve cells, which results in muscle weakness and wasting away. Vivienne’s life expectancy, doctors told her parents, would not be normal.

“We were completely crushed. All of our hopes and dreams for Vivienne—dancing, riding a bike, getting married—changed.”

Helena and Helge were also worried about their unborn child; when both parents are SMA carriers there is a 25 percent chance their child will have the disease. Luckily, the Liedtke’s new baby, Lara, is an asymptomatic carrier of SMA.

They started researching options for Vivienne. “We read everything we could about SMA.”

A few months after Vivienne was diagnosed, her pulmonologist, Dr. Robert Graham, mentioned a clinical trial for an experimental drug called SMNRx from ISIS Pharmaceuticals.

“We were very interested and followed every step of pre-clinical trials. We decided we would go through any door that opens for Vivienne,” says Helena. The family wrote to Vivienne’s neurologist Dr. Basil Darras and Graham, emphasizing their commitment to the trial. “We know it can be a problem in pediatric trials if a family moves or can’t continue in the trial for the long-term. We wanted Vivienne’s doctors to understand our commitment.”

A genetic intervention for SMA

“SMNRx is at the forefront of pharmaceutical research. It’s a genetic intervention that aims to correct the genetic defect causing SMA,” explains Darras.

The hope, says Darras, is that the treatment, which is given every six months by spinal injection, will stabilize the muscle loss and help improve motor function.

Vivienne entered a trial for SMNRx in 2012 and received her first dose in June 2012. (She is in an open-label trial, so her doctors and family know she is receiving the drug.)

Helena and Helge noticed a change in their daughter within days. Her energy level increased, she talked more and stopped napping. Instead of losing weight, she gained 5 pounds in six months and even took 10 independent steps. Early clinical data are promising as well, and indicate increased SMN protein levels and improved motor function among children receiving SMNRx.

There have been other positive developments in the last three years. Vivienne has crawled and managed to sit straight without a body brace. But toward the end of every 6 month-period between doses, the disease starts to take over. She loses some of the abilities she gains with every dose and has to re-learn things with the next dose.

“We were very interested and followed every step of pre-clinical trials. We decided we would go through any door that opens for Vivienne,” says Helena.

But Vivienne has held on to some things through every twist and turn. “Her love and compassion have touched so many lives,” says Helena.

At a recent Easter egg hunt, Vivienne, who is confined to a motorized wheelchair, failed to locate and grab any eggs, so Helena found two and gave them to her daughter. When Vivienne saw another child crying because he had no eggs, she wheeled over to him and handed him both of her eggs.

Darras refers to the coming years as the period of transformation for neuromuscular diseases. “Everything is changing. We’ve moved beyond basic science into real applications that can help kids.”